Familial autoimmunity in pediatric patients with type 1 diabetes (T1D) and its associations with the severity of clinical presentation at diabetes diagnosis and with coexisting autoimmunity

Abstract

PurposeThe aim was to evaluate the impact of familial autoimmunity on the age and severity of type 1 diabetes (T1D) presentation and on the coexistence of other autoimmune diseases. Methods We retrospectively evaluated the medical records of 121 children/adolescents (male: 63) followed in our Diabetic Clinic from 2002 to 2016. Results Seventy-six patients (62.8%) had at least one relative with an autoimmune disease, Hashimoto's thyroiditis (49.5%) and T1D (22.3%) being the commonest. Children with familial autoimmunity were younger at T1D diagnosis (mean age ± SD) (6.766 ± 3.75). Median fasting c-peptide levels at presentation were not related to familial autoimmunity. Patients with familial autoimmunity more often exhibited GADA autoantibody positivity at diagnosis. The larger the number of the patient's relatives diagnosed with an autoimmune disease, the higher were the patient's GADA levels (Spearman's rho test = 0.19, p = 0.049). Children with a first-degree relative with autoimmunity had a coexisting autoimmune disorder at a significantly higher percentage (p = 0.016). Family history of autoimmunity was negatively associated with the presence of diabetic ketoacidosis (DKA) (p = 0.024). Patients with a relative with T1D less frequently exhibited DKA at diagnosis (12.8 vs. 87.2%, p = 0.003). The presence of DKA was associated with younger age (p = 0.05) and lower c-peptide levels (p = 0.033). Conclusions Familial autoimmunity was present in 62.8% of children with T1D, autoimmune thyroiditis and T1D being the two most frequent familial autoimmune diseases. Familial autoimmunity reduced the risk of DKA at diagnosis, but these patients were younger and had higher levels of pancreatic autoantibodies and a greater risk of developing additional autoimmune diseases.

Clinico-Metabolic Profile and Follow-Up of Familial Cases Compared to Sporadic Cases in a Lyon Series of Type 1 Diabetic Children

“…As shown in our study and the literature, patients without type 1 diabetes in the family presented more severe metabolic decompensation at the time of diagnosis than those with a familial disease [4]. The paternal history of T1D was negatively associated with the presence of diabetic ketoacidosis in children [23].…”

“…As shown in our study and the literature, patients without type 1 diabetes in the family presented more severe metabolic decompensation at the time of diagnosis than those with a familial disease [ 4 ]. The paternal history of T1D was negatively associated with the presence of diabetic ketoacidosis in children [ 23 ]. The severity of the initial clinical picture and long-term complications seem more frequent in the T1D father group than in the T1D mother group without a statistically significant difference in our cohort.…”